Predicting the probability of Gaucher disease in subjects with splenomegaly and thrombocytopenia

Abstract

Hematologists are frequently involved in the diagnostic pathway of Gaucher disease type 1 (GD1) patients since they present several hematological signs. However, GD1 is mainly underdiagnosed because of a lack of awareness. In this multicenter study, we combine the use of a diagnostic algorithm with a simple test (β-glucosidase activity on Dried Blood Spot) in order to facilitate the diagnosis in a population presenting to the hematologist with splenomegaly and/or thrombocytopenia associated with other hematological signs. In this high-risk population, the prevalence of GD1 is 3.3%. We propose an equation that predicts the probability of having GD1 according to three parameters that are routinely evaluated: platelet count, ferritin, and transferrin saturation.

Figure 1

Results of DBS, β‐glucosidase assay in cell homogenate, and molecular analysis of the enrolled patients. DBS dried blood spot, GD1 Gaucher disease type 1. *They did not fulfill the inclusion and exclusion criteria.

Figure 2

Receiver operating characteristic (ROC) curves of GD1 for platelets (thousands/mm³), ferritin (μg/L), transferrin saturation (%), and for the three variables jointly analyzed in a multiple logistic regression model. AUC area under the curve, CI confidence interval.